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NM_004329.2(BMPR1A):c.1A>C (p.Met1Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jun 11, 2021)
Last evaluated:
May 29, 2020
Accession:
VCV000429102.5
Variation ID:
429102
Description:
single nucleotide variant
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NM_004329.2(BMPR1A):c.1A>C (p.Met1Leu)

Allele ID
421043
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86876019 (GRCh38) GRCh38 UCSC
10: 88635776 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.88635776A>C
NC_000010.11:g.86876019A>C
NM_004329.2:c.1A>C NP_004320.2:p.Met1Leu missense
... more HGVS
Protein change
M1L
Other names
-
Canonical SPDI
NC_000010.11:86876018:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA377774739
dbSNP: rs786203157
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 29, 2020 RCV000492794.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BMPR1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1324 1375

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 31, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000581498.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
​The p.M1L pathogenic mutation (also known as c.1A>C) is located in coding exon 1 of the BMPR1A gene and results from an A to C … (more)
Likely pathogenic
(May 29, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001351393.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This variant results in the loss of the translation start codon of the BMPR1A gene. The next in-frame methionine occurs at codon 29 that if … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
BMPR1A mutations in juvenile polyposis affect cellular localization. Howe JR The Journal of surgical research 2013 PMID: 23433720
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Calva-Cerqueira D Clinical genetics 2009 PMID: 18823382

Text-mined citations for rs786203157...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 19, 2021